PMID: 26358204

Castro-Torres IG, Cardenas-Vazquez Rde J, Velazquez-Gonzalez C, Ventura-Martinez R, De la O-Arciniega M, Naranjo-Rodriguez EB, Martinez-Vazquez M
Future therapeutic targets for the treatment and prevention of cholesterol gallstones.
Eur J Pharmacol. 2015 Oct 15;765:366-74. doi: 10.1016/j.ejphar.2015.08.045. Epub 2015 Sep 7., [PubMed]
Sentences
No. Mutations Sentence Comment
1440 ABCG5 p.Gln604Glu
X
ABCG5 p.Gln604Glu 26358204:1440:218
status: NEW
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 26358204:1440:238
status: NEW
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 An experiment assessed the association of genetic alterations with biliary lithiasis and with elevated levels of blood lipids; it determined that some alleles of these transporters present in subjects with gallstones (Q604E for ABCG5 and D19H for ABCG8) are associated with increased levels of plasma lipids (cholesterol and triglycerides), as well as with a decrease in HDL cholesterol (Acalovschi et al., 2006). Login to comment 1442 ABCG5 p.Arg50Cys
X
ABCG5 p.Arg50Cys 26358204:1442:140
status: NEW
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ABCG8 p.Asp19His
X
ABCG8 p.Asp19His 26358204:1442:177
status: NEW
view ABCG8 p.Asp19His details
 In the latter two countries, genetic mapping identified segments of about 250 kilobases, which can be mapped to the locus of ABCG5/8, ABCG5-R50C (p&#bc;4.94  10(9)) and ABCG8-D19H (p&#bc;1.74  10(10)). Login to comment